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Optimising clinical care through CDH1-specific germline variant curation: improvement of clinical assertions and updated curation guidelines.
Luo X, Maciaszek JL, Thompson BA, Leong HS, Dixon K, Sousa S, Anderson M, Roberts ME, Lee K, Spurdle AB, Mensenkamp AR, Brannan T, Pardo C, Zhang L, Pesaran T, Wei S, Fasaye GA, Kesserwan C, Shirts BH, Davis JL, Oliveira C, Plon SE, Schrader KA, Karam R; ClinGen CDH1 Variant Curation Expert Panel. Luo X, et al. Among authors: kesserwan c. J Med Genet. 2023 Jun;60(6):568-575. doi: 10.1136/jmg-2022-108807. Epub 2022 Dec 7. J Med Genet. 2023. PMID: 36600593 Free PMC article.
Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline CDH1 sequence variants.
Lee K, Krempely K, Roberts ME, Anderson MJ, Carneiro F, Chao E, Dixon K, Figueiredo J, Ghosh R, Huntsman D, Kaurah P, Kesserwan C, Landrith T, Li S, Mensenkamp AR, Oliveira C, Pardo C, Pesaran T, Richardson M, Slavin TP, Spurdle AB, Trapp M, Witkowski L, Yi CS, Zhang L, Plon SE, Schrader KA, Karam R. Lee K, et al. Among authors: kesserwan c. Hum Mutat. 2018 Nov;39(11):1553-1568. doi: 10.1002/humu.23650. Hum Mutat. 2018. PMID: 30311375 Free PMC article.
Polygenic Determinants for Subsequent Breast Cancer Risk in Survivors of Childhood Cancer: The St Jude Lifetime Cohort Study (SJLIFE).
Wang Z, Liu Q, Wilson CL, Easton J, Mulder H, Chang TC, Rusch MC, Edmonson MN, Rice SV, Ehrhardt MJ, Howell RM, Kesserwan CA, Wu G, Nichols KE, Downing JR, Hudson MM, Zhang J, Yasui Y, Robison LL. Wang Z, et al. Among authors: kesserwan ca. Clin Cancer Res. 2018 Dec 15;24(24):6230-6235. doi: 10.1158/1078-0432.CCR-18-1775. Epub 2018 Oct 26. Clin Cancer Res. 2018. PMID: 30366939 Free PMC article.
Estimated number of adult survivors of childhood cancer in United States with cancer-predisposing germline variants.
Wilson CL, Wang Z, Liu Q, Ehrhardt MJ, Mostafavi R, Easton J, Mulder H, Hedges DJ, Wang S, Rusch M, Edmonson M, Levy S, Lanctot JQ, Currie K, Lear M, Patel A, Sapkota Y, Brooke RJ, Moon W, Chang TC, Chen W, Kesserwan CA, Wu G, Nichols KE, Hudson MM, Zhang J, Robison LL, Yasui Y. Wilson CL, et al. Pediatr Blood Cancer. 2020 Feb;67(2):e28047. doi: 10.1002/pbc.28047. Epub 2019 Nov 17. Pediatr Blood Cancer. 2020. PMID: 31736278 Free PMC article.
Genetic Risk for Subsequent Neoplasms Among Long-Term Survivors of Childhood Cancer.
Wang Z, Wilson CL, Easton J, Thrasher A, Mulder H, Liu Q, Hedges DJ, Wang S, Rusch MC, Edmonson MN, Levy S, Lanctot JQ, Caron E, Shelton K, Currie K, Lear M, Patel A, Rosencrance C, Shao Y, Vadodaria B, Yergeau D, Sapkota Y, Brooke RJ, Moon W, Rampersaud E, Ma X, Chang TC, Rice SV, Pepper C, Zhou X, Chen X, Chen W, Jones A, Boone B, Ehrhardt MJ, Krasin MJ, Howell RM, Phillips NS, Lewis C, Srivastava D, Pui CH, Kesserwan CA, Wu G, Nichols KE, Downing JR, Hudson MM, Yasui Y, Robison LL, Zhang J. Wang Z, et al. Among authors: kesserwan ca. J Clin Oncol. 2018 Jul 10;36(20):2078-2087. doi: 10.1200/JCO.2018.77.8589. Epub 2018 May 30. J Clin Oncol. 2018. PMID: 29847298 Free PMC article.
Integrating somatic variant data and biomarkers for germline variant classification in cancer predisposition genes.
Walsh MF, Ritter DI, Kesserwan C, Sonkin D, Chakravarty D, Chao E, Ghosh R, Kemel Y, Wu G, Lee K, Kulkarni S, Hedges D, Mandelker D, Ceyhan-Birsoy O, Luo M, Drazer M, Zhang L, Offit K, Plon SE. Walsh MF, et al. Among authors: kesserwan c. Hum Mutat. 2018 Nov;39(11):1542-1552. doi: 10.1002/humu.23640. Hum Mutat. 2018. PMID: 30311369 Free PMC article.
Enrichment of heterozygous germline RECQL4 loss-of-function variants in pediatric osteosarcoma.
Maciaszek JL, Oak N, Chen W, Hamilton KV, McGee RB, Nuccio R, Mostafavi R, Hines-Dowell S, Harrison L, Taylor L, Gerhardt EL, Ouma A, Edmonson MN, Patel A, Nakitandwe J, Pappo AS, Azzato EM, Shurtleff SA, Ellison DW, Downing JR, Hudson MM, Robison LL, Santana V, Newman S, Zhang J, Wang Z, Wu G, Nichols KE, Kesserwan CA. Maciaszek JL, et al. Cold Spring Harb Mol Case Stud. 2019 Oct 23;5(5):a004218. doi: 10.1101/mcs.a004218. Print 2019 Oct. Cold Spring Harb Mol Case Stud. 2019. PMID: 31604778 Free PMC article.
Tumor Mutation Burden, Expressed Neoantigens and the Immune Microenvironment in Diffuse Gliomas.
Yu G, Pang Y, Merchant M, Kesserwan C, Gangalapudi V, Abdelmaksoud A, Ranjan A, Kim O, Wei JS, Chou HC, Wen X, Sindiri S, Song YK, Xi L, Kaplan RN, Armstrong TS, Gilbert MR, Aldape K, Khan J, Wu J. Yu G, et al. Among authors: kesserwan c. Cancers (Basel). 2021 Dec 3;13(23):6092. doi: 10.3390/cancers13236092. Cancers (Basel). 2021. PMID: 34885201 Free PMC article.
36 results